ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Genome-Nilou Lab

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1520
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val) rs6599241 1.00000
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_001126121.2(SLC25A19):c.289-26G>A rs4788882 0.99234
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186 0.99062
NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=) rs4766334 0.98834
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_018979.4(WNK1):c.4517G>C (p.Cys1506Ser) rs7955371 0.98791
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000399.5(EGR2):c.627= (p.Pro209=) rs224083 0.98414
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_012073.5(CCT5):c.994-130C>T rs2607327 0.98303
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_018979.4(WNK1):c.258T>C (p.Cys86=) rs3168640 0.97485
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_004565.3(PEX14):c.169+34A>G rs2480779 0.95850
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_004863.4(SPTLC2):c.1177-49G>A rs2178876 0.95724
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327 0.95611
NM_000153.4(GALC):c.1251+150C>T rs417521 0.95597
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.1835-79A>G rs417276 0.95459
NM_000153.4(GALC):c.1339-61C>T rs398343 0.95455
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_016138.5(COQ7):c.73+36T>G rs4531717 0.93661
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_000274.4(OAT):c.1160-59C>T rs2459217 0.91650
NM_012073.5(CCT5):c.1498+28del rs147103051 0.91564
NM_016138.5(COQ7):c.74-29A>G rs4782202 0.91365
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005957.5(MTHFR):c.1752+146T>C rs7518348 0.90139
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_001365536.1(SCN9A):c.4774+16T>A rs10180721 0.89276
NM_001349253.2(SCN11A):c.893-45A>G rs6779297 0.89171
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_000521.4(HEXB):c.558+45G>A rs1665894 0.89050
NM_014317.5(PDSS1):c.609+46A>G rs1780196 0.88595
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg) rs6746030 0.87930
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_198252.3(GSN):c.1417-22T>C rs306769 0.85170
NM_182476.3(COQ6):c.1210+13A>G rs7141392 0.84418
NM_033305.3(VPS13A):c.2512+116A>G rs2050831 0.84346
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868 0.84165
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.83233
NM_000182.5(HADHA):c.1621-26G>T rs1865324 0.82473
NM_000182.5(HADHA):c.1393-62A>C rs13387855 0.82463
NM_021076.4(NEFH):c.2232T>C (p.Ala744=) rs165923 0.82375
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_198252.3(GSN):c.1763-34G>A rs306771 0.80923
NM_021076.4(NEFH):c.2784A>G (p.Val928=) rs165625 0.80626
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile) rs4715630 0.79707
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_007126.5(VCP):c.1360-35A>G rs2258240 0.75740
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_000487.6(ARSA):c.1108-32C>T rs762673 0.74934
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_004184.4(WARS1):c.1254+35T>C rs2234530 0.74617
NM_001365536.1(SCN9A):c.596+25C>T rs4429487 0.74453
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_012073.5(CCT5):c.530+100C>T rs2578614 0.73499
NM_012073.5(CCT5):c.*67A>G rs544 0.73487
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1179+109G>A rs2244717 0.73439
NM_012073.5(CCT5):c.531-98G>A rs2457156 0.73436
NM_012073.5(CCT5):c.1498+36_1498+38del rs370306096 0.73432
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426
NM_012073.5(CCT5):c.331+71T>C rs2607294 0.73392
NM_012073.5(CCT5):c.331+133A>C rs2578616 0.73340
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_007332.3(TRPA1):c.558A>C (p.Lys186Asn) rs7819749 0.72096
NM_002972.4(SBF1):c.3905-31T>C rs4824117 0.72013
NM_018979.4(WNK1):c.1287A>G (p.Ala429=) rs10774466 0.71926
NM_001042472.3(ABHD12):c.191+31_191+36del rs139848340 0.71682
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_001034850.3(RETREG1):c.1000+20G>T rs162850 0.71290
NM_004863.4(SPTLC2):c.1304-34G>T rs2072672 0.70676
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_001365536.1(SCN9A):c.1107+48C>T rs7588632 0.70514
NM_018979.4(WNK1):c.1153+40C>G rs2158502 0.70364
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala) rs6795970 0.70355
NM_007332.3(TRPA1):c.375T>C (p.Asn125=) rs1811457 0.70297
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_006514.4(SCN10A):c.1868-9A>G rs6599250 0.69912
NM_018979.4(WNK1):c.2328G>A (p.Gln776=) rs1012729 0.69563
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala) rs4715631 0.68618
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_004184.4(WARS1):c.826+6A>G rs941923 0.68233
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_003632.3(CNTNAP1):c.364-34A>G rs9889373 0.68019
NM_004184.4(WARS1):c.1003C>T (p.Leu335=) rs9453 0.67569
NM_006070.6(TFG):c.846T>C (p.Pro282=) rs11353 0.66628
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
NM_033305.3(VPS13A):c.8105+81G>A rs7043232 0.65470
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_014317.5(PDSS1):c.130-46T>C rs1780186 0.65133
NM_001007792.1(NTRK1):c.9+149G>A rs1800600 0.64949
NM_001042472.3(ABHD12):c.951-79A>G rs2260197 0.64898
NM_002857.4(PEX19):c.594+37T>C rs2795067 0.64655
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_213655.5(WNK1):c.2268T>C (p.Pro756=) rs7300829 0.63848
NM_006308.3(HSPB3):c.369T>C (p.Gly123=) rs7823 0.63826
NM_001349253.2(SCN11A):c.2950-19G>C rs6599266 0.63661
NM_007332.3(TRPA1):c.2869-6C>A rs3824151 0.62601
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_002529.4(NTRK1):c.574+100T>C rs1800879 0.62128
NM_018979.4(WNK1):c.759+27G>A rs3858703 0.61933
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_014317.5(PDSS1):c.130-23del rs71403882 0.61230
NM_001349253.2(SCN11A):c.1638T>C (p.Cys546=) rs4073113 0.61123
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.61061
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_000153.4(GALC):c.196-43C>T rs2289511 0.59150
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_001007792.1(NTRK1):c.9+141A>G rs7546838 0.58984
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) rs2271029 0.58855
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_018979.4(WNK1):c.5509+83A>G rs2255390 0.57410
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.55967
NM_005908.4(MANBA):c.2015-28G>A rs4547797 0.55331
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_213655.5(WNK1):c.2220dup (p.Phe741fs) rs11441897 0.55139
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_016138.5(COQ7):c.308C>T (p.Thr103Met) rs11074359 0.54635
NM_001953.5(TYMP):c.516+27A>G rs470119 0.54142
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_001113491.2(SEPTIN9):c.*325T>C rs448203 0.53926
NM_006308.3(HSPB3):c.282G>A (p.Leu94=) rs7699 0.53709
NM_003632.3(CNTNAP1):c.1736-22G>A rs3760386 0.53157
NM_002972.4(SBF1):c.1431+27G>A rs2076714 0.53065
NM_033305.3(VPS13A):c.9400-34A>T rs2025846 0.53041
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001371279.1(REEP1):c.33-23A>C rs1863059 0.52882
NM_033305.3(VPS13A):c.3961-22A>G rs2275549 0.52711
NM_014317.5(PDSS1):c.336+22G>A rs1748356 0.52543
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) rs1053744 0.52056
NM_015271.5(TRIM2):c.1032G>A (p.Thr344=) rs893805 0.51938
NM_007332.3(TRPA1):c.1630C>T (p.Leu544=) rs3735943 0.51464
NM_007332.3(TRPA1):c.1530-22T>C rs3735944 0.51434
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_033305.3(VPS13A):c.101-62A>G rs12552898 0.51020
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611 0.50821
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_001130823.3(DNMT1):c.1832+14A>G rs2114724 0.50605
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_001113491.2(SEPTIN9):c.*40A>T rs11537705 0.50158
NM_000153.4(GALC):c.1670+60C>T rs366615 0.49953
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_015915.5(ATL1):c.630+105G>A rs10131107 0.49391
NM_003681.5(PDXK):c.*14T>C rs7527 0.49363
NM_002047.4(GARS1):c.659-43C>A rs1558064 0.49314
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_001130823.3(DNMT1):c.3394+34T>C rs2290684 0.49102
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_015915.5(ATL1):c.1119+136_1119+137insAT rs10626021 0.48669
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=) rs381309 0.47682
NM_001142633.3(PIK3R5):c.837C>T (p.His279=) rs394811 0.47651
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_004863.4(SPTLC2):c.632-49del rs11344772 0.47249
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_021629.4(GNB4):c.117T>C (p.Ser39=) rs1362650 0.46787
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_004863.4(SPTLC2):c.851-30G>C rs2272587 0.46203
NM_001142633.3(PIK3R5):c.657+41T>C rs381198 0.46158
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met) rs2651369 0.45332
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_001113491.2(SEPTIN9):c.*6A>G rs1059485 0.45123
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_002677.5(PMP2):c.*12T>C rs6473276 0.44966
NM_000153.4(GALC):c.1911+122C>G rs45567441 0.44852
NM_000153.4(GALC):c.1911+129G>A rs45626938 0.44823
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_001136472.2(LITAF):c.220+42C>T rs3743582 0.44408
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_021815.5(SLC5A7):c.741+44G>A rs3731683 0.43078
NM_018444.4(PDP1):c.*36T>C rs4735258 0.42976
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_001370298.3(FGD4):c.1248-37T>A rs4931641 0.42297
NM_205836.3(FBXO38):c.1619-4G>T rs11168047 0.42278
NM_001034850.3(RETREG1):c.873+23T>C rs162849 0.42260
NM_022834.5(VWA1):c.1005A>G (p.Pro335=) rs1892289 0.42255
NM_205836.3(FBXO38):c.3170+11T>C rs10051223 0.42229
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_006096.4(NDRG1):c.538-132G>C rs2272650 0.41873
NM_001303256.3(MORC2):c.96C>T (p.Ala32=) rs737924 0.40756
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016 0.40721
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_001303256.3(MORC2):c.1437A>G (p.Pro479=) rs3747151 0.39939
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_001371279.1(REEP1):c.417+45T>C rs12988844 0.39574
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_033305.3(VPS13A):c.9078-133A>G rs10869920 0.39381
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_002617.4(PEX10):c.776+33G>T rs3795269 0.38841
NM_001374736.1(DST):c.14068+5G>A rs9367689 0.38646
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_021619.3(PRDM12):c.682+38A>G rs7030674 0.37941
NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg) rs4712138 0.37552
NM_001371279.1(REEP1):c.105+26C>T rs1863058 0.37197
NM_007332.3(TRPA1):c.1644+15C>T rs3735942 0.36900
NM_003630.3(PEX3):c.524-19T>C rs22908 0.36866
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_002972.4(SBF1):c.56-27G>T rs9616852 0.36389
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_002506.3(NGF):c.104C>T (p.Ala35Val) rs6330 0.36049
NM_001130823.3(DNMT1):c.2721-45C>T rs2288349 0.35412
NM_002778.4(PSAP):c.1432-22C>T rs885828 0.34727
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_001370298.3(FGD4):c.2046+37A>G rs7970584 0.34437
NM_021619.3(PRDM12):c.648C>T (p.Pro216=) rs7021384 0.34150
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_006096.4(NDRG1):c.699-51A>C rs2233335 0.31793
NM_001142633.3(PIK3R5):c.2383-27T>C rs4791765 0.31643
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.438+83G>A rs17412104 0.31437
NM_001374736.1(DST):c.14741G>A (p.Arg4914His) rs11756977 0.31190
NM_006514.4(SCN10A):c.884-13T>C rs7641844 0.30982
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_002972.4(SBF1):c.3284-31C>T rs2073278 0.30661
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_001142633.3(PIK3R5):c.2496-46A>G rs4791764 0.30344
NM_000153.4(GALC):c.264+108G>A rs2245387 0.30074
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001303256.3(MORC2):c.378C>G (p.Thr126=) rs2072132 0.29850
NM_006096.4(NDRG1):c.450+61A>G rs2272651 0.29847
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001142633.3(PIK3R5):c.2299+18T>G rs9903447 0.29072
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=) rs11650737 0.28596
NM_001142633.3(PIK3R5):c.1011C>T (p.Asp337=) rs16957702 0.28549
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_205836.3(FBXO38):c.426+24T>G rs34685718 0.28226
NM_000274.4(OAT):c.199+19C>T rs10794058 0.27706
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_205836.3(FBXO38):c.1774T>C (p.Ser592Pro) rs10043775 0.27145
NM_014317.5(PDSS1):c.467+42G>C rs2368183 0.27040
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_006096.4(NDRG1):c.855+148T>C rs2233339 0.26454
NM_001003800.2(BICD2):c.1063-111G>C rs56339669 0.26288
NM_006736.6(DNAJB2):c.66-14C>T rs2276638 0.26148
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_006514.4(SCN10A):c.3805-41G>A rs6781740 0.25086
NM_018979.4(WNK1):c.5583+36C>T rs2301880 0.24814
NM_001142633.3(PIK3R5):c.1101G>A (p.Ser367=) rs9915880 0.24687
NM_001142633.3(PIK3R5):c.2299+13G>A rs9902600 0.24618
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_006736.6(DNAJB2):c.-36-110G>C rs908197 0.23575
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23408
NM_003104.6(SORD):c.806A>C (p.Asn269Thr) rs930337 0.23350
NM_000521.4(HEXB):c.300-32C>T rs35711978 0.23197
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_007332.3(TRPA1):c.2938-49T>G rs2305018 0.23028
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_007332.3(TRPA1):c.2938-24C>G rs2305017 0.21808
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=) rs6771157 0.21708
NM_001042472.3(ABHD12):c.423-68C>T rs2274890 0.21695
NM_015459.5(ATL3):c.712-18C>G rs12274980 0.21502
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_005957.5(MTHFR):c.1167-76G>T rs12121543 0.20910
NM_015271.5(TRIM2):c.215+39G>A rs1470104 0.20908
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_001374736.1(DST):c.23065G>A (p.Ala7689Thr) rs11758339 0.20781
NM_003104.6(SORD):c.908+11C>T rs28495265 0.20727
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_002778.4(PSAP):c.1431+116C>T rs749823 0.20609
NM_033305.3(VPS13A):c.1901-215G>A rs2022444 0.20477
NM_033305.3(VPS13A):c.2170+42G>A rs2021998 0.20458
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_205836.3(FBXO38):c.962+18A>G rs10077690 0.20380
NM_001349253.2(SCN11A):c.2725G>A (p.Val909Ile) rs33985936 0.20310
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=) rs7617919 0.20158
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) rs5771001 0.20075
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=) rs62244070 0.20052
NM_002529.4(NTRK1):c.1674G>A (p.Gln558=) rs6334 0.19892
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_002972.4(SBF1):c.3688+31C>T rs2281439 0.19323
NM_001376.5(DYNC1H1):c.1462-41G>A rs2983422 0.19200
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=) rs59468016 0.18899
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_007126.5(VCP):c.129+47G>A rs10972300 0.17835
NM_015915.5(ATL1):c.630+7G>A rs3759588 0.17660
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_020381.4(PDSS2):c.876+48C>T rs3734677 0.16221
NM_001142633.3(PIK3R5):c.205-21C>T rs92535 0.16172
NM_006736.6(DNAJB2):c.230-10G>A rs3731897 0.16060
NM_000274.4(OAT):c.901-22T>C rs17619406 0.15809
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala) rs165602 0.14527
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_002972.4(SBF1):c.4087-25C>T rs2076713 0.14256
NM_002778.4(PSAP):c.1540-34C>T rs4747202 0.13788
NM_002778.4(PSAP):c.1005+18C>T rs55829339 0.13764
NM_000153.4(GALC):c.195+34G>T rs143228205 0.13486
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_007332.3(TRPA1):c.3053A>G (p.His1018Arg) rs959976 0.13074
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_000520.6(HEXA):c.1074-94C>A rs2303449 0.12787
NM_000520.6(HEXA):c.1074-127A>T rs2303450 0.12778
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_018979.4(WNK1):c.1401-11C>A rs11064573 0.12417
NM_018979.4(WNK1):c.1479T>C (p.Asp493=) rs2286006 0.12413
NM_021076.4(NEFH):c.1200C>T (p.Ala400=) rs165734 0.12411
NM_018979.4(WNK1):c.4044C>T (p.Thr1348=) rs10849577 0.12407
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) rs12079419 0.12034
NM_000153.4(GALC):c.328+19T>A rs74337989 0.12002
NM_000153.4(GALC):c.753-59C>T rs17687364 0.11436
NM_000153.4(GALC):c.196-70G>A rs74689143 0.11432
NM_000153.4(GALC):c.583-56G>A rs79515863 0.11428
NM_000153.4(GALC):c.582+99C>T rs17798011 0.11427
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000153.4(GALC):c.621+24T>C rs45568734 0.11420
NM_000153.4(GALC):c.1161+38T>C rs17687109 0.11416
NM_000153.4(GALC):c.621+63T>A rs17797987 0.11416
NM_000153.4(GALC):c.621+98T>C rs17797981 0.11415
NM_000153.4(GALC):c.752+56T>C rs76521220 0.11410
NM_000153.4(GALC):c.329-35G>A rs77466023 0.11380
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_000701.8(ATP1A1):c.637-17C>T rs12079355 0.11276
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_015459.5(ATL3):c.1107+5G>A rs17656941 0.10843
NM_015459.5(ATL3):c.510+63G>A rs61928195 0.10810
NM_006096.4(NDRG1):c.698+84A>G rs11575973 0.10802
NM_002972.4(SBF1):c.55+33G>A rs149886696 0.10536
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_033305.3(VPS13A):c.6379-27G>T rs56156608 0.10471
NM_033305.3(VPS13A):c.2288+20T>C rs12335955 0.10447
NM_000543.5(SMPD1):c.1487-36C>T rs11601088 0.10436
NM_002529.4(NTRK1):c.2047-16T>C rs12076232 0.10434
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_018979.4(WNK1):c.421G>A (p.Ala141Thr) rs11554421 0.09706
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_006096.4(NDRG1):c.891+39C>A rs2233341 0.09513
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_003681.5(PDXK):c.387G>A (p.Pro129=) rs11539534 0.09312
NM_000701.8(ATP1A1):c.3043+38T>C rs10924083 0.08938
NM_000701.8(ATP1A1):c.2952-37C>T rs12136995 0.08895
NM_000701.8(ATP1A1):c.3043+8T>C rs12139437 0.08884
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) rs58335489 0.08274
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.08095
NM_033305.3(VPS13A):c.2825-63T>G rs17423029 0.07996
NM_000701.8(ATP1A1):c.1024-64G>A rs41464748 0.07904
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) rs11540956 0.07885
NM_033305.3(VPS13A):c.7026+62A>G rs17424248 0.07843
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_033305.3(VPS13A):c.615+20G>C rs17723908 0.07780
NM_033305.3(VPS13A):c.2428-50G>A rs17063468 0.07779
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) rs5771037 0.06512
NM_002778.4(PSAP):c.909+32G>T rs41307569 0.06451
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_033305.3(VPS13A):c.7027-54A>G rs72746022 0.06290
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_198252.3(GSN):c.1260C>T (p.Gly420=) rs2304393 0.05790
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_033305.3(VPS13A):c.8553+31G>C rs72746094 0.05781
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_033305.3(VPS13A):c.8667+106A>G rs17340234 0.05621
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_033305.3(VPS13A):c.3508-51A>G rs1317305 0.05518
NM_033305.3(VPS13A):c.3813-171C>G rs17423381 0.05518
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204 0.05416
NM_033305.3(VPS13A):c.1596-31C>T rs72742601 0.05251
NM_033305.3(VPS13A):c.883-16A>C rs72742584 0.05222
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) rs9567 0.04948
NM_000520.6(HEXA):c.570+57G>A rs12440768 0.04919
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_002506.3(NGF):c.54G>A (p.Ala18=) rs6325 0.04032
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn) rs41271862 0.03717
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_002529.4(NTRK1):c.1860C>T (p.Gly620=) rs6338 0.03397
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_002529.4(NTRK1):c.2052A>G (p.Gly684=) rs34271945 0.03311
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_006096.4(NDRG1):c.389+82G>T rs2233329 0.03173
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_003681.5(PDXK):c.331+26T>G rs114593958 0.03036
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_001113491.2(SEPTIN9):c.*283C>T rs9897357 0.02822
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_001113491.2(SEPTIN9):c.1042+10C>T rs114550498 0.02534
NM_015915.5(ATL1):c.705C>T (p.Phe235=) rs35044504 0.02457
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000143.4(FH):c.904+47G>A rs145209119 0.01502
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_001303256.3(MORC2):c.699-20T>C rs78973434 0.01322
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01048
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001113491.2(SEPTIN9):c.1125-5C>T rs73377525 0.01030
NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln) rs56320207 0.01010
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_025137.4(SPG11):c.4810T>C (p.Phe1604Leu) rs116807842 0.00956
NM_001113491.2(SEPTIN9):c.1043-4G>A rs147213134 0.00950
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_002529.4(NTRK1):c.288-8C>T rs80026148 0.00947
NM_015915.5(ATL1):c.35-14G>A rs115722924 0.00906
NM_001113491.2(SEPTIN9):c.*260C>T rs28364840 0.00872
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_015459.5(ATL3):c.1434A>G (p.Gly478=) rs189119869 0.00825
NM_015915.5(ATL1):c.693T>C (p.Gly231=) rs139720661 0.00790
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_015459.5(ATL3):c.978+7dup rs528012262 0.00762
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_025137.4(SPG11):c.*243A>G rs116069609 0.00669
NM_025137.4(SPG11):c.2621-15T>G rs188590034 0.00667
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905 0.00599
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_002529.4(NTRK1):c.2202G>A (p.Thr734=) rs55668752 0.00562
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_015915.5(ATL1):c.*305T>C rs2291674 0.00541
NM_015915.5(ATL1):c.1230G>A (p.Gly410=) rs148548325 0.00531
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971 0.00436
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001303256.3(MORC2):c.1737+4C>T rs5997814 0.00421
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_002529.4(NTRK1):c.428+12C>A rs41267425 0.00357
NM_025137.4(SPG11):c.64A>G (p.Met22Val) rs34255962 0.00354
NM_001303256.3(MORC2):c.158-12del rs66613527 0.00343
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185 0.00339
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_001303256.3(MORC2):c.226+18T>C rs114021247 0.00279
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_015915.5(ATL1):c.621G>A (p.Lys207=) rs35629585 0.00263
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) rs202186741 0.00232
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975 0.00227
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_001303256.3(MORC2):c.2841+20C>T rs192723178 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_002506.3(NGF):c.78C>T (p.Val26=) rs150188752 0.00177
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_015459.5(ATL3):c.418C>T (p.Leu140=) rs34261014 0.00159
NM_001113491.2(SEPTIN9):c.1477-9G>A rs145143440 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 0.00135
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_025137.4(SPG11):c.3068A>G (p.Glu1023Gly) rs143145331 0.00112
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_001113491.2(SEPTIN9):c.141C>G (p.Val47=) rs189537244 0.00108
NM_002506.3(NGF):c.284G>A (p.Arg95His) rs150136942 0.00106
NM_002529.4(NTRK1):c.611C>T (p.Ser204Leu) rs148324672 0.00104
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491 0.00078
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_015915.5(ATL1):c.30T>C (p.Ser10=) rs146613929 0.00068
NM_002529.4(NTRK1):c.2142C>T (p.Gly714=) rs145139769 0.00064
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873 0.00061
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) rs144039896 0.00060
NM_015915.5(ATL1):c.669C>T (p.Tyr223=) rs146975855 0.00059
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_001303256.3(MORC2):c.2193+15C>T rs201301518 0.00055
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_025137.4(SPG11):c.7152-14_7152-10dup rs566399432 0.00050
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00047
NM_015459.5(ATL3):c.712-8A>G rs200747906 0.00045
NM_015915.5(ATL1):c.408T>C (p.Asp136=) rs76375909 0.00041
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) rs78745349 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_001113491.2(SEPTIN9):c.*207G>A rs560243481 0.00033
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) rs199557573 0.00029
NM_001113491.2(SEPTIN9):c.687C>T (p.Pro229=) rs370602650 0.00029
NM_002506.3(NGF):c.247C>T (p.Arg83Cys) rs138175552 0.00029
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_001113491.2(SEPTIN9):c.1125-10C>T rs199872443 0.00028
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) rs80015943 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_002529.4(NTRK1):c.574+10G>A rs201336491 0.00026
NM_025137.4(SPG11):c.2445-20A>T rs545137154 0.00026
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_025137.4(SPG11):c.6892A>G (p.Ile2298Val) rs147962000 0.00025
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_025137.4(SPG11):c.1457-20A>C rs376343587 0.00024
NM_001303256.3(MORC2):c.3030+9G>C rs200086094 0.00022
NM_002529.4(NTRK1):c.236T>A (p.Leu79Gln) rs139140006 0.00022
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) rs375450011 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 0.00021
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) rs187657144 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_002529.4(NTRK1):c.927G>A (p.Pro309=) rs144015813 0.00018
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) rs201471541 0.00016
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) rs546188962 0.00016
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015915.5(ATL1):c.991-6T>G rs192428744 0.00016
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser) rs747973076 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) rs371344688 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) rs750968694 0.00012
NM_025137.4(SPG11):c.256C>G (p.His86Asp) rs773123413 0.00012
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) rs200363929 0.00011
NM_002506.3(NGF):c.224G>A (p.Arg75Lys) rs141486298 0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015459.5(ATL3):c.1599A>G (p.Arg533=) rs201636843 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu) rs201902382 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_002506.3(NGF):c.257G>A (p.Arg86His) rs200629339 0.00010
NM_002529.4(NTRK1):c.1161C>T (p.Pro387=) rs536619715 0.00010
NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) rs766307207 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_015915.5(ATL1):c.306C>A (p.Asp102Glu) rs145204580 0.00010
NM_002529.4(NTRK1):c.575-16C>T rs143312136 0.00009
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) rs540751200 0.00009
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015459.5(ATL3):c.31G>T (p.Ala11Ser) rs201870874 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015915.5(ATL1):c.417+3A>G rs200310890 0.00009
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His) rs376817637 0.00009
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) rs754452975 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_025137.4(SPG11):c.1602+10T>G rs201535432 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000925.4(PDHB):c.-4C>T rs778465584 0.00007
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) rs774560543 0.00007
NM_002529.4(NTRK1):c.1354C>T (p.Arg452Cys) rs34900547 0.00007
NM_002529.4(NTRK1):c.2229A>C (p.Gly743=) rs756505247 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro) rs529316227 0.00007
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=) rs370282739 0.00007
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln) rs200283964 0.00007
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_002506.3(NGF):c.335C>G (p.Pro112Arg) rs147763877 0.00006
NM_002506.3(NGF):c.393C>T (p.Gly131=) rs778162180 0.00006
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015915.5(ATL1):c.1635A>G (p.Pro545=) rs191729308 0.00006
NM_025137.4(SPG11):c.1187A>G (p.Tyr396Cys) rs3759875 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser) rs552471760 0.00006
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg) rs139423939 0.00006
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp) rs368992436 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 0.00006
NM_025137.4(SPG11):c.789A>G (p.Lys263=) rs764439012 0.00006
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) rs559745979 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_002506.3(NGF):c.539G>A (p.Arg180Gln) rs758166016 0.00005
NM_002529.4(NTRK1):c.1557C>T (p.Gly519=) rs564775946 0.00005
NM_002529.4(NTRK1):c.575-19G>A rs370828525 0.00005
NM_002529.4(NTRK1):c.787G>A (p.Val263Met) rs201509717 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.64C>T (p.His22Tyr) rs759200881 0.00004
NM_002529.4(NTRK1):c.1125G>A (p.Met375Ile) rs770611182 0.00004
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) rs762942184 0.00004
NM_002529.4(NTRK1):c.2085G>A (p.Pro695=) rs377730927 0.00004
NM_002529.4(NTRK1):c.2222C>T (p.Thr741Met) rs145081333 0.00004
NM_002529.4(NTRK1):c.2334C>T (p.His778=) rs370504033 0.00004
NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His) rs750111437 0.00004
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys) rs757031354 0.00004
NM_002529.4(NTRK1):c.356G>A (p.Arg119His) rs778566154 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015915.5(ATL1):c.570C>G (p.Leu190=) rs202173614 0.00004
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr) rs760573942 0.00004
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile) rs139399250 0.00004
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg) rs375859622 0.00004
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn) rs191148548 0.00004
NM_025137.4(SPG11):c.4907-13C>G rs778489486 0.00004
NM_025137.4(SPG11):c.6006+3A>G rs201717063 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu) rs747133152 0.00004
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00004
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His) rs779892720 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_002506.3(NGF):c.173C>T (p.Ala58Val) rs201861727 0.00003
NM_002506.3(NGF):c.421G>C (p.Val141Leu) rs199511298 0.00003
NM_002506.3(NGF):c.512A>G (p.Lys171Arg) rs375808064 0.00003
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=) rs750656916 0.00003
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002529.4(NTRK1):c.1354+8G>A rs763576316 0.00003
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) rs764737760 0.00003
NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) rs778520978 0.00003
NM_002529.4(NTRK1):c.253C>T (p.Arg85Cys) rs543320028 0.00003
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) rs745366033 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp) rs748177028 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 0.00003
NM_025137.4(SPG11):c.634A>G (p.Ile212Val) rs758638438 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln) rs370773328 0.00003
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis) rs1331704584 0.00003
NM_025137.4(SPG11):c.937G>A (p.Val313Ile) rs533492925 0.00003
NM_000153.4(GALC):c.122G>C (p.Gly41Ala) rs1287272360 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000487.6(ARSA):c.684C>T (p.His228=) rs762695598 0.00002
NM_000487.6(ARSA):c.73A>G (p.Ile25Val) rs549154390 0.00002
NM_000520.6(HEXA):c.616G>A (p.Val206Ile) rs543071358 0.00002
NM_001386140.1(MTTP):c.*38G>A rs561157874 0.00002
NM_002506.3(NGF):c.146G>A (p.Arg49His) rs781072056 0.00002
NM_002506.3(NGF):c.196C>A (p.Gln66Lys) rs766082334 0.00002
NM_002506.3(NGF):c.53C>T (p.Ala18Val) rs754287903 0.00002
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp) rs760222071 0.00002
NM_002529.4(NTRK1):c.1777C>T (p.Arg593Trp) rs781209572 0.00002
NM_002529.4(NTRK1):c.1888G>A (p.Val630Met) rs1405634315 0.00002
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) rs369353892 0.00002
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile) rs55948542 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_002529.4(NTRK1):c.360-4G>A rs761530159 0.00002
NM_002529.4(NTRK1):c.366C>G (p.Leu122=) rs764843161 0.00002
NM_002529.4(NTRK1):c.531T>C (p.Cys177=) rs1057523619 0.00002
NM_002529.4(NTRK1):c.549G>T (p.Leu183=) rs756232321 0.00002
NM_002529.4(NTRK1):c.941G>A (p.Arg314His) rs368769883 0.00002
NM_002529.4(NTRK1):c.957C>T (p.Gly319=) rs772764828 0.00002
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015506.3(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_025137.4(SPG11):c.206C>T (p.Thr69Met) rs764422997 0.00002
NM_025137.4(SPG11):c.2306G>A (p.Arg769His) rs368151745 0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val) rs758923470 0.00002
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu) rs141106870 0.00002
NM_025137.4(SPG11):c.4122C>T (p.Phe1374=) rs1194478318 0.00002
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn) rs770380861 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser) rs776764189 0.00002
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr) rs199873327 0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His) rs766384717 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr) rs376828731 0.00002
NM_025137.4(SPG11):c.820G>A (p.Val274Ile) rs543316224 0.00002
NM_000108.5(DLD):c.419A>G (p.His140Arg) rs767210810 0.00001
NM_000108.5(DLD):c.65A>G (p.His22Arg) rs914629774 0.00001
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn) rs775980435 0.00001
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.891C>T (p.Ser297=) rs770536697 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) rs762367349 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys) rs994015584 0.00001
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) rs775300302 0.00001
NM_001303256.3(MORC2):c.894A>G (p.Val298=) rs562612569 0.00001
NM_001386140.1(MTTP):c.2674G>A (p.Gly892Arg) rs774949603 0.00001
NM_002506.3(NGF):c.154C>T (p.Arg52Cys) rs766912679 0.00001
NM_002506.3(NGF):c.184C>T (p.Arg62Cys) rs755243469 0.00001
NM_002506.3(NGF):c.185G>A (p.Arg62His) rs369266810 0.00001
NM_002506.3(NGF):c.31G>A (p.Ala11Thr) rs965438646 0.00001
NM_002506.3(NGF):c.35T>G (p.Phe12Cys) rs1553234832 0.00001
NM_002506.3(NGF):c.600T>C (p.Tyr200=) rs774626005 0.00001
NM_002529.4(NTRK1):c.1004C>T (p.Pro335Leu) rs758490619 0.00001
NM_002529.4(NTRK1):c.1220C>T (p.Pro407Leu) rs750799657 0.00001
NM_002529.4(NTRK1):c.1276G>A (p.Val426Ile) rs986498490 0.00001
NM_002529.4(NTRK1):c.1302G>A (p.Thr434=) rs767104704 0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) rs200937156 0.00001
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg) rs761247634 0.00001
NM_002529.4(NTRK1):c.1424C>G (p.Ser475Cys) rs756402401 0.00001
NM_002529.4(NTRK1):c.1437C>T (p.Thr479=) rs770948722 0.00001
NM_002529.4(NTRK1):c.1528A>T (p.Ile510Phe) rs781478411 0.00001
NM_002529.4(NTRK1):c.1676G>A (p.Arg559His) rs201564883 0.00001
NM_002529.4(NTRK1):c.1717G>A (p.Val573Met) rs755016431 0.00001
NM_002529.4(NTRK1):c.1732G>A (p.Val578Ile) rs760764097 0.00001
NM_002529.4(NTRK1):c.1739C>G (p.Thr580Ser) rs777123174 0.00001
NM_002529.4(NTRK1):c.1795C>T (p.Arg599Cys) rs772229945 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002529.4(NTRK1):c.1925C>T (p.Ala642Val) rs920692665 0.00001
NM_002529.4(NTRK1):c.2047-6T>C rs762866535 0.00001
NM_002529.4(NTRK1):c.2067G>A (p.Leu689=) rs1057521447 0.00001
NM_002529.4(NTRK1):c.2088C>T (p.Pro696=) rs56008523 0.00001
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His) rs200022271 0.00001
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) rs747855434 0.00001
NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys) rs1009726086 0.00001
NM_002529.4(NTRK1):c.2296C>T (p.Arg766Trp) rs760974854 0.00001
NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser) rs2274496 0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His) rs578095133 0.00001
NM_002529.4(NTRK1):c.320C>T (p.Ala107Val) rs540521894 0.00001
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro) rs1306924167 0.00001
NM_002529.4(NTRK1):c.450G>T (p.Leu150=) rs760720879 0.00001
NM_002529.4(NTRK1):c.500T>G (p.Leu167Arg) rs749711737 0.00001
NM_002529.4(NTRK1):c.574+1G>A rs1232901259 0.00001
NM_002529.4(NTRK1):c.590A>G (p.Lys197Arg) rs753902046 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002529.4(NTRK1):c.647A>G (p.Gln216Arg) rs1471711796 0.00001
NM_002529.4(NTRK1):c.718-15T>C rs778745696 0.00001
NM_002529.4(NTRK1):c.817C>T (p.Arg273Trp) rs151334385 0.00001
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser) rs547972574 0.00001
NM_002529.4(NTRK1):c.875C>T (p.Thr292Met) rs764645590 0.00001
NM_002529.4(NTRK1):c.878C>T (p.Ala293Val) rs567093941 0.00001
NM_002529.4(NTRK1):c.88T>C (p.Ser30Pro) rs1350547406 0.00001
NM_002529.4(NTRK1):c.97G>T (p.Ala33Ser) rs777913530 0.00001
NM_002529.4(NTRK1):c.988A>G (p.Thr330Ala) rs779155543 0.00001
NM_005957.5(MTHFR):c.1033C>T (p.Arg345Cys) rs759031330 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015915.5(ATL1):c.921C>T (p.Pro307=) rs535790981 0.00001
NM_025137.4(SPG11):c.114G>A (p.Met38Ile) rs886051185 0.00001
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp) rs1304995096 0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His) rs745498485 0.00001
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys) rs758046989 0.00001
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840 0.00001
NM_025137.4(SPG11):c.1632A>G (p.Thr544=) rs368683333 0.00001
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly) rs763060505 0.00001
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala) rs566318835 0.00001
NM_025137.4(SPG11):c.2379G>A (p.Val793=) rs202245950 0.00001
NM_025137.4(SPG11):c.2620+6T>C rs762381864 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_025137.4(SPG11):c.3292-6dup rs777377848 0.00001
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly) rs377351819 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His) rs373641013 0.00001
NM_025137.4(SPG11):c.3778T>C (p.Leu1260=) rs776154524 0.00001
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val) rs768718170 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys) rs200700774 0.00001
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser) rs748925327 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) rs779161014 0.00001
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly) rs1185441476 0.00001
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys) rs201254271 0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=) rs375403626 0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=) rs570599267 0.00001
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser) rs2082706047 0.00001
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe) rs752725391 0.00001
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu) rs573482671 0.00001
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln) rs141262934 0.00001
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp) rs753980126 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys) rs373587870 0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=) rs376245210 0.00001
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro) rs1275110844 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu) rs1350164343 0.00001
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys) rs375915115 0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) rs779900397 0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser) rs777798718 0.00001
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355
NM_000108.5(DLD):c.542T>C (p.Ile181Thr) rs1291809324
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1183A>C (p.Ile395Leu) rs763125933
NM_000153.4(GALC):c.1781G>A (p.Gly594Glu) rs2139941367
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.583-108G>T rs17797993
NM_000158.4(GBE1):c.-35dup rs11391701
NM_000158.4(GBE1):c.-4G>A rs1283709127
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000318.3(PEX2):c.-17-41G>T rs10957830
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.1716C>A (p.His572Gln) rs1792228135
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2584-10T>C rs375129444
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000487.6(ARSA):c.*73G>A rs2146715022
NM_000487.6(ARSA):c.276C>T (p.Gly92=) rs978006787
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser) rs1430695346
NM_000487.6(ARSA):c.545del (p.Pro182fs) rs1057516907
NM_000487.6(ARSA):c.86T>C (p.Phe29Ser) rs2146728488
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu) rs2088580697
NM_000521.4(HEXB):c.512-112T>G rs1696979
NM_000521.4(HEXB):c.806del (p.Asn269fs) rs2112171738
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn) rs2134024509
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000701.8(ATP1A1):c.1024-100T>G rs56016633
NM_000701.8(ATP1A1):c.1223-32G>A rs12130872
NM_000701.8(ATP1A1):c.1974-14del rs77990511
NM_000701.8(ATP1A1):c.755-77A>T rs12134095
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr) rs1392622459
NM_001042472.3(ABHD12):c.1029+247_1029+248insC rs3215644
NM_001042472.3(ABHD12):c.191+24G>C rs77202707
NM_001113491.2(SEPTIN9):c.*55dup rs5822173
NM_001130823.3(DNMT1):c.1044-8del rs59599980
NM_001349253.2(SCN11A):c.2403+23dup rs5848481
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp) rs2125500615
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001386140.1(MTTP):c.1233C>T (p.Leu411=) rs1179169124
NM_001386140.1(MTTP):c.1652A>T (p.Asn551Ile) rs2110230166
NM_001386140.1(MTTP):c.2378A>C (p.Asp793Ala) rs780797954
NM_001386140.1(MTTP):c.451G>A (p.Gly151Ser) rs867316992
NM_001953.5(TYMP):c.766-53C>T rs2148679059
NM_002506.3(NGF):c.133G>A (p.Asp45Asn) rs1553234811
NM_002506.3(NGF):c.202C>T (p.Arg68Cys) rs572066909
NM_002506.3(NGF):c.203G>A (p.Arg68His)
NM_002506.3(NGF):c.242G>A (p.Arg81Gln)
NM_002506.3(NGF):c.283C>T (p.Arg95Cys) rs771270154
NM_002506.3(NGF):c.412A>G (p.Ser138Gly) rs2101018808
NM_002506.3(NGF):c.562G>A (p.Gly188Arg) rs760753923
NM_002529.4(NTRK1):c.1039C>G (p.Arg347Gly) rs561243137
NM_002529.4(NTRK1):c.1039C>T (p.Arg347Cys) rs561243137
NM_002529.4(NTRK1):c.1077C>T (p.Tyr359=) rs1057521034
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002529.4(NTRK1):c.1196-3_1196-1del rs1558104865
NM_002529.4(NTRK1):c.1354+1G>A rs764771898
NM_002529.4(NTRK1):c.1354C>G (p.Arg452Gly) rs34900547
NM_002529.4(NTRK1):c.1355-19G>C rs375972171
NM_002529.4(NTRK1):c.1355-4C>G rs981404213
NM_002529.4(NTRK1):c.1501+1G>A rs1647858636
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_002529.4(NTRK1):c.1621G>T (p.Val541Leu) rs1426132695
NM_002529.4(NTRK1):c.1721G>A (p.Arg574His)
NM_002529.4(NTRK1):c.1748G>A (p.Arg583His) rs762542314
NM_002529.4(NTRK1):c.1754del (p.Leu585fs) rs1571699945
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.1882C>T (p.Leu628=) rs555107102
NM_002529.4(NTRK1):c.2011A>C (p.Met671Leu)
NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn) rs1558108205
NM_002529.4(NTRK1):c.2019G>A (p.Arg673=) rs1553262978
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2086_2112del (p.Pro696_Phe704del) rs756614200
NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter) rs140852621
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup) rs1327580455
NM_002529.4(NTRK1):c.2243G>T (p.Arg748Leu)
NM_002529.4(NTRK1):c.2265G>A (p.Glu755=) rs1553263348
NM_002529.4(NTRK1):c.2387G>A (p.Gly796Asp) rs1381670284
NM_002529.4(NTRK1):c.280A>C (p.Arg94=) rs991913175
NM_002529.4(NTRK1):c.321G>T (p.Ala107=) rs774351278
NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser) rs202161010
NM_002529.4(NTRK1):c.360-2A>C rs797045059
NM_002529.4(NTRK1):c.394T>C (p.Trp132Arg)
NM_002529.4(NTRK1):c.396G>C (p.Trp132Cys)
NM_002529.4(NTRK1):c.428+12C>T rs41267425
NM_002529.4(NTRK1):c.429-1G>A rs748672380
NM_002529.4(NTRK1):c.453C>G (p.His151Gln) rs368564443
NM_002529.4(NTRK1):c.514G>A (p.Glu172Lys) rs267598081
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_002529.4(NTRK1):c.623G>A (p.Gly208Glu) rs1290171656
NM_002529.4(NTRK1):c.662G>A (p.Gly221Asp) rs369478563
NM_002529.4(NTRK1):c.718-156A>C rs2644614
NM_002529.4(NTRK1):c.891C>T (p.His297=) rs1553262169
NM_002529.4(NTRK1):c.961G>A (p.Val321Met)
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_002778.4(PSAP):c.1193-26G>A rs3747860
NM_002972.4(SBF1):c.1968+40C>A rs9617014
NM_002972.4(SBF1):c.2840-43C>G rs2073280
NM_003104.6(SORD):c.266-35C>T rs2854446
NM_003630.3(PEX3):c.206-14del rs397705490
NM_003975.4(SH2D2A):c.123+181C>T rs1800601
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_006096.4(NDRG1):c.327-33C>T rs2233327
NM_006096.4(NDRG1):c.327-48C>G rs2233326
NM_007332.3(TRPA1):c.1905+28C>T rs2120474
NM_012073.5(CCT5):c.1498+31G>A rs58620077
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015271.5(TRIM2):c.405T>G (p.Thr135=) rs2289409
NM_015459.5(ATL3):c.1539+14_1539+16del rs148102000
NM_015459.5(ATL3):c.618+13_618+16del rs56167522
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3:c.275_278del
NM_015915.5(ATL1):c.1552-24_1552-20del rs202061961
NM_015915.5(ATL1):c.1552-68_1552-67insATA rs3080581
NM_015915.5(ATL1):c.418-19G>T rs2934684
NM_015915.5(ATL1):c.991-3dup rs753642042
NM_016035.5(COQ4):c.149G>C (p.Gly50Ala) rs3003601
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_018979.4(WNK1):c.2373+21dup rs5795952
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn) rs1408459133
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val) rs746138256
NM_025137.4(SPG11):c.1735+4A>G rs2141056546
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser) rs775799559
NM_025137.4(SPG11):c.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.19G>T (p.Val7Phe) rs774670657
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val) rs779467011
NM_025137.4(SPG11):c.23C>T (p.Ala8Val) rs200939573
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.257+17A>G rs201878138
NM_025137.4(SPG11):c.258-6del rs373234269
NM_025137.4(SPG11):c.2621-15dup rs577083743
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile) rs534771304
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly) rs746116309
NM_025137.4(SPG11):c.4161+9C>G rs1555451101
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys) rs762524521
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn) rs775209503
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_025137.4(SPG11):c.6755-17_6755-15del rs143026515
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del) rs1060501169
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308
NM_033305.3(VPS13A):c.2037+191T>C rs10115162
NM_033305.3(VPS13A):c.3118+66A>C rs11145367
NM_033305.3(VPS13A):c.3508-44G>T rs1317304
NM_033305.3(VPS13A):c.3961-6dup rs3216012
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly) rs1336467149
NM_033305.3(VPS13A):c.616-47A>T rs2131153308
NM_133259.4(LRPPRC):c.1035A>G (p.Leu345=) rs1673950990
NM_133259.4(LRPPRC):c.1316C>T (p.Pro439Leu) rs1391510968
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.409+27G>C rs140182

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